Variant report

Variant	rs726160
Chromosome Location	chr6:38221639-38221640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38221614..38223859-chr6:38225623..38227159,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10947723	0.85[CEU][hapmap]
rs1118268	0.96[CEU][hapmap];0.87[TSI][hapmap]
rs1931765	1.00[JPT][hapmap]
rs1931766	1.00[JPT][hapmap]
rs2395695	1.00[JPT][hapmap]
rs4711527	0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4714129	1.00[JPT][hapmap]
rs4714130	1.00[JPT][hapmap]
rs4714132	1.00[JPT][hapmap]
rs6458047	1.00[JPT][hapmap]
rs6904507	1.00[JPT][hapmap]
rs6917654	0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7738411	1.00[JPT][hapmap]
rs873316	0.96[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9380724	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9462416	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9470833	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs726160	SLC26A8	cis	cerebellum	SCAN
rs726160	KCNK17	cis	parietal	SCAN
rs726160	PRICKLE4	cis	parietal	SCAN
rs726160	MOCS1	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:38204800-38229400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:38205200-38228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:38207800-38229400	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:38208000-38222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:38208000-38226400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:38208200-38222200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:38208200-38226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:38208200-38227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:38208200-38236600	Weak transcription	Gastric	stomach
13	chr6:38208200-38255000	Weak transcription	Ovary	ovary
14	chr6:38208600-38222400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:38209000-38229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:38209200-38227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:38213000-38222000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:38213200-38222800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:38213200-38223000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:38213400-38221800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:38213400-38228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:38213400-38232400	Weak transcription	Right Ventricle	heart
23	chr6:38215000-38222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:38215200-38222800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:38215200-38229400	Weak transcription	Brain Angular Gyrus	brain
26	chr6:38215600-38229000	Weak transcription	Brain Substantia Nigra	brain
27	chr6:38216000-38229000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:38216800-38227000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:38217000-38227000	Weak transcription	NHDF-Ad	bronchial
31	chr6:38217200-38226200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:38218000-38222400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:38218000-38229600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:38218000-38229800	Weak transcription	Spleen	Spleen
35	chr6:38218800-38222800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:38218800-38232200	Weak transcription	Small Intestine	intestine
37	chr6:38219200-38227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:38219400-38229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:38219800-38222400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:38220000-38238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:38220200-38225600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:38220200-38229400	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:38220400-38222800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:38220400-38223400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:38220400-38225600	Weak transcription	Placenta	Placenta
46	chr6:38220400-38226800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:38220400-38226800	Weak transcription	Thymus	Thymus
48	chr6:38220400-38229400	Weak transcription	Brain Anterior Caudate	brain
49	chr6:38220600-38222600	Strong transcription	Lung	lung
50	chr6:38220600-38223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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